Canonical Allele Identifier: CA414133008

Gene: COL4A5

Linked Data

• gnomAD v4: X-108695436-T-C
• MyVariant Identifiers: chrX:g.107938666T>C (hg19) ; chrX:g.108695436T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695436T>C , CM000685.2:g.108695436T>C	GRCh38
NC_000023.10:g.107938666T>C , CM000685.1:g.107938666T>C	GRCh37
NC_000023.9:g.107825322T>C	NCBI36
NG_011977.1:g.260513T>C
NG_011977.2:g.260513T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4991T>C MANE Select	ENSP00000331902.7:p.Phe1664Ser
ENST00000361603.7:c.4973T>C	ENSP00000354505.2:p.Phe1658Ser
ENST00000510690.2:n.1485T>C
ENST00000644079.1:n.1822T>C
ENST00000328300.10:c.4991T>C	ENSP00000331902.6:p.Phe1664Ser
ENST00000361603.6:c.4973T>C	ENSP00000354505.2:p.Phe1658Ser
ENST00000504541.1:c.219+515T>C	ENSP00000424845.1:n.219+515T>C
ENST00000515658.1:c.325-861T>C
NM_000495.4:c.4973T>C	NP_000486.1:p.Phe1658Ser
NM_033380.2:c.4991T>C	NP_203699.1:p.Phe1664Ser
XM_005262070.2:c.4982T>C	XP_005262127.1:p.Phe1661Ser
XM_006724616.2:c.4991T>C	XP_006724679.1:p.Phe1664Ser
XM_011530849.1:c.4667T>C	XP_011529151.1:p.Phe1556Ser
XM_011530851.1:c.2564T>C	XP_011529153.1:p.Phe855Ser
XM_011530849.2:c.5006T>C	XP_011529151.2:p.Phe1669Ser
XM_017029259.2:c.4997T>C	XP_016884748.1:p.Phe1666Ser
XM_017029260.1:c.4988T>C	XP_016884749.1:p.Phe1663Ser
XM_017029263.2:c.3326T>C	XP_016884752.1:p.Phe1109Ser
NM_000495.5:c.4973T>C	NP_000486.1:p.Phe1658Ser
NM_033380.3:c.4991T>C MANE Select	NP_203699.1:p.Phe1664Ser